GENE NAME | RNF123 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000164068 |
UNIPROT ACCESSION NUMBER | Q5XPI4 |
GO MOLECULAR FUNCTION | ['ubiquitin-protein transferase activity', 'metal ion binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1280218; R-HSA-168256; R-HSA-392499; R-HSA-5688426; R-HSA-5689880; R-HSA-597592; R-HSA-983168; R-HSA-983169 |
1 combination linked to RNF123 | OLI1329 |
1 variant linked to RNF123 | RNF123:c.3150+17C>T, |
1 disease linked to RNF123 | Primary immunodeficiency |